Edna at the Palace! - Unique - The Rare Chromosome Disorder ...

Briony has a 13 year old sister and they
both push the boundaries whenever they
can. Briony can get frustrated when she
cannot for example follow the plot of a
television programme. She used to have a
problem with her anger management but
apart from the teenage outbursts she is able
to control her emotions better and we can
talk things through.
Briony is a very loving, caring person and
very thoughtful of other people’s feelings.
She does not have any friends outside
school and family life. We do not know
what the future holds for Briony but she
is our little star and brightens our lives.
Tetrasomy 9p Mosaicism
Alison: DOB 20/05/1991
Mitzi Hyland
Email: mitzi02@bigpond.com
Alison was born on
the 20th May, 1991.
Pregnancy was not
as easy as my other
four children and
she failed to thrive
as one would
expect. When she
was born, she
weighed 5lb 13oz
which at the time
was unusual because my other four children
all weighed close to 8lb and over. At this
point it was not known about her genetic
abnormality.
When Alison was fifteen months old,
she was diagnosed with Tetrasomy 9p
Mosaicism. She progressed very slowly, and
because she had very low muscle strength,
she tired very easily. She didn’t walk until
she was almost two years old and although
it took her a long time to speak, once she
mastered it she hasn’t stopped talking since.
Alison is a beautiful child who accepts all
people for what they are. She attacks life
with so much enthusiasm that she even
makes me ashamed. With a lot of hard
work and dedication, Alison has
accomplished her year ten certificate. I find
it difficult to actually put into words just
how proud we all are of her. She is a delight
to all of her family and friends. They all
take pride in the way she fights for what
she wants and how she just keeps on
trying.
Deletion (11)(p13p13)
Mosaicism
Hannah Pinder: DOB 26/08/2002
Carolyn and Richard Pinder
Email: thefarndonpinders@btopenworld.com
Carolyn writes:
I’ve never written before as I have never
felt the need but I read your magazine and
feel so much empathy for the families who
feature in them and think “By the grace of
Chromosome 13 Deletion Network
Unique Mum Candace Carlson writes:
In the year 2000 my daughter, Kylie, was diagnosed with chromosome deletion 13 (q14.3 q22)
almost to the day of her 2nd birthday. To say I was overwhelmed, confused and scared was
an understatement. I spent countless hours researching this rare disorder to find out everything
I could on it in addition to more hours on current and new therapy to help her and yet still
continuing to see specialists. I searched for other children in the same situation and was
frustrated that I was always “looking”. Finally, it dawned on me to create a website and let them
find me! Thus, the creation of the www.chromosome13deletion.com/ website. I would like to
invite you and your family to visit our website and our support network. We are now close to
70 members and growing at a rapid pace. We have a private yahoo group because we share
stories, information and what works and doesn’t work with each other and want to protect
each other’s privacy on the very public internet. We are in touch with specialists on the latest
news, research and studies being conducted.
If your child has CD13, please consider joining our network family for support with your child.
We can be reached via email at info@solutionsinsite.com. I would also add that Kylie’s precise
diagnosis has been changed since she had microarray analysis done in a research study. She has
been found to have a small deletion in 13q21.1 and a separate larger deletion from 13q21.1 to
13q31.1
All the best
Candace Carlson
God…” Our daughter Hannah was born
nine days late on 26th August 2002. We
knew I was expecting a large baby but
10lb 13oz was much bigger than any of us
expected! I had gone into labour around
7am and my husband and I made our way
to Nottingham City Maternity Suite at
around 9am. Although it was August, it felt
particularly cold in the labour suite but as
my husband was feeling the chill, we didn’t
think there was anything wrong with me.
I had an epidural at
1pm and remained
in bed after this
time attached to
monitors, etc. I got
colder and colder
and the midwife
put more blankets
on me and even
turned the heat
lamps on to warm
me up. It wasn’t until the next midwife
came on duty at 7pm that she realized
that I had a raging temperature. It hadn’t
occurred to myself or my husband that I
had (we recognized the symptoms as soon
as she said it and felt rather silly!). The
previous midwife had not taken my
temperature all the time she was on duty.
Richard (my husband) and I were not aware
of any further problems until Hannah was
born at 11.27pm. She wasn’t breathing,
so they immediately took her to the
high dependency unit in neo-natal.
Unfortunately, as it was a Bank Holiday they
were short-staffed and there was no one to
stay with us while Hannah was being cared
for. Other than ringing the bell to ask, we
were not informed of her progress. When
anyone came, they told us they were
“working on her”. One of the medicines
they gave her should have made her pupils
dilate and when they didn’t the staff
realized there was more wrong than just her
breathing. They gave her lots of tests and
scans, etc and found that she had been
born with cytomegalovirus. We were lucky
it didn’t cause any added problems. She
also has a chromosome disorder; basically
part of the upper (short) arm of
chromosome 11 was missing, her pupils
remained contracted (this is called aniridia)
and there was the chance that she could
develop Wilms tumour on her kidneys. She
went for renal scans every three months
until she was five years old, by which time
the chance of developing a tumour were no
more than that of anyone else.
Her aniridia only bothers her when the sun
is low in the sky, ie at this time of year. She
had sunglasses to combat her photophobia,
although sometimes she still struggles. We
have never been contacted by the hospital
to find out why the midwife did not know I
had a temperature. It was never a question
we asked because there were so may other
problems too, I often wonder how long
it would have taken to realise about the
chromosome disorder had she been born
breathing!
My husband and I turned 40 this year, and
my mother-in-law 70, so we had a joint
party and asked for donations rather than
presents. We raised £700 which we decided
to split between Unique and Nottingham
City Hospital Neo-natal unit as she was in
high dependency for three days and then
low dependency for another three days.
Although we have been lucky enough not
to need your assistance with Hannah’s
chromosome disorder, there are lots of
families who do and I hope by raising
awareness to our family and friends, some
of them will think about your fantastic
work and donate to you again in the future.
I know a lot of them visited our website.
Please find enclosed cheques valuing £350
and we hope we can find other ways of
www.rarechromo.org
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